Detailed description page of humcfs
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Humcfs_3875 details |
Primary information | |
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Humcfs Id | Humcfs_3875 |
chromosome_number | chromosome16 |
name | FRA16B |
chrlocation | 66700001-70800000 |
cytoband | 16q22.1 |
type | DistamycinA |
frequency | Rare |
gene_ensembl_id | ENSG00000090861 |
gene_name | AARS |
havana_transcript_id | OTTHUMT00000435023 |
gene_location | 70254390-70262361 |
gene_orientation | - |
exon_id | ENSE00002601521, ENSE00003581725, ENSE00003552111, ENSE00000694594, ENSE00003583910, ENSE00003559520, ENSE00002689769 |
exon_number | 7 |
gene_description | alanyl-tRNA synthetase |
disease_description | Charcot-Marie-Tooth Disease,Cardiac fibrosis,Charcot-Marie-Tooth Disease, Axonal, Type 2n,Axonal neuropathy,Peripheral motor neuropathy,Lung Diseases, Interstitial,Breast Carcinoma,Peripheral Neuropathy,Mitochondrial cardiomyopathy,Malignant neoplasm of breast,Epileptic encephalopathy,Hereditary Motor and Sensory-Neuropathy Type II |
miRNA_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 3338799 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |